Canonical Allele Identifier: CA354413596

Gene: GATA2

Linked Data

• ClinVar Variation Id: 1184008
• ClinVar RCV Id: RCV001541947
• dbSNP Id: rs148942346
• COSMIC: COSM5945000
• MyVariant Identifiers: chr3:g.128200732G>T (hg19) ; chr3:g.128481889G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128481889G>T , CM000665.2:g.128481889G>T	GRCh38
NC_000003.11:g.128200732G>T , CM000665.1:g.128200732G>T	GRCh37
NC_000003.10:g.129683422G>T	NCBI36
NG_029334.1:g.16299C>A , LRG_295:g.16299C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000487848.6:c.1073C>A MANE Plus Clinical	ENSP00000417074.1:p.Thr358Asn
ENST00000696466.1:c.1355C>A	ENSP00000512647.1:p.Thr452Asn
ENST00000696672.1:c.56C>A	ENSP00000512796.1:p.Thr19Asn
ENST00000341105.7:c.1073C>A MANE Select	ENSP00000345681.2:p.Thr358Asn
ENST00000341105.6:c.1073C>A	ENSP00000345681.2:p.Thr358Asn
ENST00000430265.6:c.1031C>A	ENSP00000400259.2:p.Thr344Asn
ENST00000487848.5:c.1073C>A	ENSP00000417074.1:p.Thr358Asn
ENST00000489987.1:n.190C>A
NM_001145661.1:c.1073C>A , LRG_295t1:c.1073C>A	NP_001139133.1:p.Thr358Asn
NM_001145662.1:c.1031C>A	NP_001139134.1:p.Thr344Asn
NM_032638.4:c.1073C>A , LRG_295t2:c.1073C>A	NP_116027.2:p.Thr358Asn
NM_001145661.2:c.1073C>A MANE Plus Clinical	NP_001139133.1:p.Thr358Asn
NM_032638.5:c.1073C>A MANE Select	NP_116027.2:p.Thr358Asn